Variant report

Variant	esv3444343
Chromosome Location	chr12:45875935-45878108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73285232	chr12:45875978-45875979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536043480	chr12:45875995-45875996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553144395	chr12:45876073-45876074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571710030	chr12:45876082-45876083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569729567	chr12:45876101-45876102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183810945	chr12:45876108-45876109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527488560	chr12:45876122-45876123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557574461	chr12:45876125-45876126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147936989	chr12:45876133-45876134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575636782	chr12:45876172-45876173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200122149	chr12:45876204-45876205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377221125	chr12:45876205-45876206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57115647	chr12:45876246-45876247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58099394	chr12:45876248-45876249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59275501	chr12:45876252-45876253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4768622	chr12:45876267-45876268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542913004	chr12:45876345-45876346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187593594	chr12:45876347-45876348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190679862	chr12:45876375-45876376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142046612	chr12:45876390-45876391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564053547	chr12:45876412-45876413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79104445	chr12:45876462-45876463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201951048	chr12:45876644-45876645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144322010	chr12:45876645-45876646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182262942	chr12:45876651-45876652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147763682	chr12:45876763-45876764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562116899	chr12:45876889-45876890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531124633	chr12:45876893-45876894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549224126	chr12:45876904-45876905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567522723	chr12:45876956-45876957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4414292	chr12:45877090-45877091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547160254	chr12:45877099-45877100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571680843	chr12:45877138-45877139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369449179	chr12:45877139-45877140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186846340	chr12:45877194-45877195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191682264	chr12:45877197-45877198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569236270	chr12:45877229-45877230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536555516	chr12:45877288-45877289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554953026	chr12:45877344-45877345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75832784	chr12:45877374-45877375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533782668	chr12:45877406-45877407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558696114	chr12:45877414-45877415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79340243	chr12:45877429-45877430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543870183	chr12:45877471-45877472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562153876	chr12:45877537-45877538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574046970	chr12:45877541-45877542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143467529	chr12:45877582-45877583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10880794	chr12:45877619-45877620	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528764737	chr12:45877653-45877654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138544288	chr12:45877682-45877683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45870600-45877200	Weak transcription	Aorta	Aorta
2	chr12:45877200-45877600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:45877200-45877600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:45877200-45877600	Enhancers	Adipose Nuclei	Adipose
5	chr12:45877200-45877600	Enhancers	Aorta	Aorta
6	chr12:45877200-45877600	Enhancers	Ovary	ovary
7	chr12:45877200-45877600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:45877200-45878000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:45877600-45879200	Weak transcription	Adipose Nuclei	Adipose
10	chr12:45878000-45879400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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